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Article

Germline mosaicism in Cornelia de Lange syndrome.

American journal of medical genetics. Part A - 1 Jun 2012

Slavin Thomas P, Lazebnik Noam, Clark Dinah M, Vengoechea Jaime, Cohen Leslie, Kaur Maninder, Konczal Laura, Crowe Carol A, Corteville Jane E, Nowaczyk Malgorzata J, Byrne Janice L, Jackson Laird G, Krantz Ian D

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may...

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Source

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Identifiers

PMID: 22581668
DOI: 10.1002/ajmg.a.35381
PMCID: PMC3356507

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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